Variant report

Variant	rs17726513
Chromosome Location	chr6:80130318-80130319
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH3BGRL2-2	chr6:80130257-80130354	ENSG00000231533
2	lnc-SH3BGRL2-2	chr6:80130257-80130354	NONHSAT113691
3	lnc-SH3BGRL2-2	chr6:80130231-80130354	NONHSAT113689
4	lnc-SH3BGRL2-2	chr6:80130257-80130354	NONHSAT113690

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10484943	0.84[ASN][1000 genomes]
rs1385530	0.82[ASN][1000 genomes]
rs16890716	1.00[ASN][1000 genomes]
rs16890720	0.82[ASN][1000 genomes]
rs174525	0.84[ASN][1000 genomes]
rs17726405	0.84[ASN][1000 genomes]
rs17743065	0.82[ASN][1000 genomes]
rs17743190	0.82[ASN][1000 genomes]
rs17799462	0.82[ASN][1000 genomes]
rs17799708	0.82[ASN][1000 genomes]
rs17799762	0.82[ASN][1000 genomes]
rs17799805	0.82[ASN][1000 genomes]
rs17800074	0.84[ASN][1000 genomes]
rs196667	0.84[ASN][1000 genomes]
rs196670	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3846735	0.82[ASN][1000 genomes]
rs3857449	0.82[ASN][1000 genomes]
rs3857450	0.82[ASN][1000 genomes]
rs3857451	0.82[ASN][1000 genomes]
rs3857453	0.82[ASN][1000 genomes]
rs3857454	0.82[ASN][1000 genomes]
rs3907327	0.82[ASN][1000 genomes]
rs3907328	0.82[ASN][1000 genomes]
rs3907329	0.82[ASN][1000 genomes]
rs4364439	0.82[ASN][1000 genomes]
rs4580824	0.84[ASN][1000 genomes]
rs55715962	0.82[ASN][1000 genomes]
rs55805600	0.84[ASN][1000 genomes]
rs56226127	0.82[ASN][1000 genomes]
rs56277073	0.82[ASN][1000 genomes]
rs62411314	0.80[ASN][1000 genomes]
rs62411317	0.96[ASN][1000 genomes]
rs6925847	0.84[ASN][1000 genomes]
rs6939506	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886301	chr6:80111104-80339088	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv886302	chr6:80111104-80355973	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1030126	chr6:80113449-80209165	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1027388	chr6:80113449-80355973	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80116200-80131600	Weak transcription	Fetal Intestine Small	intestine
2	chr6:80123600-80131800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:80126400-80131400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr6:80129400-80130600	Flanking Active TSS	Dnd41	blood
5	chr6:80129600-80130400	Active TSS	Brain Hippocampus Middle	brain
6	chr6:80129600-80131000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:80129800-80130600	Enhancers	Placenta	Placenta
8	chr6:80129800-80130800	Active TSS	Brain Anterior Caudate	brain
9	chr6:80129800-80130800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:80129800-80131200	Enhancers	NHLF	lung
11	chr6:80129800-80131600	Enhancers	HUVEC	blood vessel
12	chr6:80129800-80133200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:80130000-80130600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr6:80130000-80130800	Enhancers	HSMM	muscle
15	chr6:80130000-80131000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:80130000-80131200	Enhancers	Fetal Muscle Leg	muscle
17	chr6:80130000-80131600	Enhancers	HSMMtube	muscle
18	chr6:80130000-80132200	Enhancers	Fetal Lung	lung
19	chr6:80130200-80130400	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr6:80130200-80130400	Flanking Active TSS	Brain Substantia Nigra	brain
21	chr6:80130200-80130400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr6:80130200-80131200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:80130200-80131200	Flanking Active TSS	Brain Cingulate Gyrus	brain
24	chr6:80130200-80131200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr6:80130200-80131600	Enhancers	Primary hematopoietic stem cells	blood
26	chr6:80130200-80132400	Enhancers	Osteobl	bone

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